A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4316775



Internal ID20184732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:33526473..33526668hg38UCSC Ensembl
chr17:31853492..31853687hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091082
Samples
Known GenesASIC2
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4316775
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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